The SLC2A1 gene homepage

General information
Gene symbol SLC2A1
Gene name solute carrier family 2 (facilitated glucose transporter), member 1
Chromosome 1
Chromosomal band p34.2
Imprinted Unknown
Genomic reference NG_008232.1
Transcript reference NM_006516.2
Exon/intron information NM_006516.2 exon/intron table
Associated with diseases DYT-9, EIG-12, GLUT1DS-1, GLUT1DS-2, ID, SDCHCN
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 216
Unique public DNA variants reported 156
Individuals with public variants 66
Hidden variants 13
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated September 17, 2021
Version SLC2A1:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006516.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/SLV2A1
HGNC 11005
Entrez Gene 6513
PubMed articles SLC2A1
OMIM - Gene 138140
OMIM - Diseases DYT-9 (dystonia, type 9 (DYT-9))
EIG-12 (epilepsy, idiopathic, generalized, susceptibility to, type 12 (EIG-12))
GLUT1DS-1 (GLUT1 deficiency syndrome, type 1, infantile onset, severe (GLUT1DS-1))
GLUT1DS-2 (DYT-18)
SDCHCN (cryohydrocytosis, stomatin-deficient, with neurologic defects (SDCHCN))
HGMD SLC2A1
GeneCards SLC2A1
GeneTests SLC2A1
Orphanet SLC2A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018992 1 solute carrier family 2 (facilitated glucose transporter), member 1 NM_006516.2 NP_006507.2 216


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